Canonical Allele Identifier: CA1090523533

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1767018211
• gnomAD v3: 6-73600689-C-G
• gnomAD v4: 6-73600689-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600689C>G , CM000668.2:g.73600689C>G	GRCh38
NC_000006.11:g.74310412C>G , CM000668.1:g.74310412C>G	GRCh37
NC_000006.10:g.74367133C>G	NCBI36
NG_008272.1:g.58326G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1260-248G>C MANE Select	ENSP00000348019.5:n.1260-248G>C
ENST00000355773.5:c.1260-248G>C	ENSP00000348019.5:n.1260-248G>C
NM_012434.4:c.1260-248G>C	NP_036566.1:n.1260-248G>C
XM_005248710.2:c.1209-248G>C	XP_005248767.1:n.1209-248G>C
XM_005248711.1:c.1062-248G>C	XP_005248768.1:n.1062-248G>C
XM_011535750.1:c.1112-248G>C	XP_011534052.1:n.1112-248G>C
NM_012434.5:c.1260-248G>C MANE Select	NP_036566.1:n.1260-248G>C
NM_001382629.1:c.1029-248G>C	NP_001369558.1:n.1029-248G>C
NM_001382630.1:c.1260-5475G>C	NP_001369559.1:n.1260-5475G>C
NM_001382631.1:c.1281-248G>C	NP_001369560.1:n.1281-248G>C
NM_001382632.1:c.1173-248G>C	NP_001369561.1:n.1173-248G>C
NM_001382633.1:c.1260-248G>C	NP_001369562.1:n.1260-248G>C
NM_001382634.1:c.1101-248G>C	NP_001369563.1:n.1101-248G>C
NM_001382635.1:c.1257-248G>C	NP_001369564.1:n.1257-248G>C
NM_001382636.1:c.942-248G>C	NP_001369565.1:n.942-248G>C